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Items: 1 to 20 of 38

1.
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
2.
Iván Landires, Virginia Núñez-Samudio, Julián Fernandez, Cesar Sarria, Víctor Villareal, Fernando Córdoba, Giovanni Apráez-Ippolito, Samuel Martínez, Oscar M. Vidal, Jorge I. Vélez, Mauricio Arcos-Holzinger, Sergio Landires, Mauricio Arcos-Burgos
Genes (Basel) 2020 Feb; 11(2): 129. Published online 2020 Jan 25. doi: 10.3390/genes11020129
PMCID:
PMC7074289
3.
Madoka Mori‐Yoshimura, Kazuhiko Segawa, Narihiro Minami, Yasushi Oya, Hirohumi Komaki, Ikuya Nonaka, Ichizo Nishino, Miho Murata
Muscle Nerve. 2017 Apr; 55(4): 465–469. Published online 2016 Dec 30. doi: 10.1002/mus.25369
PMCID:
PMC5396288
4.
Hemakumar M. Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David M. Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang
J Hum Genet.
Published in final edited form as: J Hum Genet. 2017 Feb; 62(2): 243–252. Published online 2016 Oct 6. doi: 10.1038/jhg.2016.116
PMCID:
PMC5266644
5.
Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno
PLoS One. 2017; 12(1): e0170280. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0170280
PMCID:
PMC5245889
6.
Jordi Díaz-Manera, Jaume Llauger, Eduard Gallardo, Isabel Illa
Acta Myol. 2015 Oct-Dec; 34(2-3): 95–108.
PMCID:
PMC4859076
7.
Inna Inashkina, Eriks Jankevics, Janis Stavusis, Inta Vasiljeva, Kristine Viksne, Ieva Micule, Jurgis Strautmanis, Maruta S. Naudina, Loreta Cimbalistiene, Vaidutis Kucinskas, Astrida Krumina, Algirdas Utkus, Birute Burnyte, Ausra Matuleviciene, Baiba Lace
BMC Musculoskelet Disord. 2016; 17: 200. Published online 2016 May 4. doi: 10.1186/s12891-016-1058-z
PMCID:
PMC4855345
8.
Isabelle Richard, Jean‐Yves Hogrel, Daniel Stockholm, Christine A. M. Payan, Françoise Fougerousse, The Calpainopathy Study Group, Bruno Eymard, Claude Mignard, Adolfo Lopez de Munain, Michel Fardeau, Jon Andoni Urtizberea
Ann Clin Transl Neurol. 2016 Apr; 3(4): 248–265. Published online 2016 Mar 4. doi: 10.1002/acn3.287
PMCID:
PMC4818744
9.
Satish V. Khadilkar, Chetan R. Chaudhari, Rashna S. Dastur, Pradnya S. Gaitonde, Jayendra G. Yadav
Ann Indian Acad Neurol. 2016 Jan-Mar; 19(1): 108–111. doi: 10.4103/0972-2327.175435
PMCID:
PMC4782525
10.
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
11.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
12.
Pushpa Narayanaswami, Michael Weiss, Duygu Selcen, William David, Elizabeth Raynor, Gregory Carter, Matthew Wicklund, Richard J. Barohn, Erik Ensrud, Robert C. Griggs, Gary Gronseth, Anthony A. Amato
Neurology. 2014 Oct 14; 83(16): 1453–1463. doi: 10.1212/WNL.0000000000000892
PMCID:
PMC4206155
13.
Kristýna Stehlíková, Daniela Skálová, Jana Zídková, Lenka Mrázová, Petr Vondráček, Radim Mazanec, Stanislav Voháňka, Jana Haberlová, Markéta Hermanová, Josef Zámečník, Ondřej Souček, Hana Ošlejšková, Nina Dvořáčková, Pavla Solařová, Lenka Fajkusová
BMC Neurol. 2014; 14: 154. Published online 2014 Aug 19. doi: 10.1186/s12883-014-0154-7
PMCID:
PMC4145250
14.
VINCENZO NIGRO, MARCO SAVARESE
Acta Myol. 2014 May; 33(1): 1–12.
PMCID:
PMC4021627
15.
Xiomara Q. Rosales, Vinod Malik, Amita Sneh, Lei Chen, Sarah Lewis, Janaiah Kota, Julie M. Gastier-Foster, Caroline Astbury, Rob Pyatt, Shalini Reshmi, Louise R. Rodino-Klapac, K. Reed Clark, Jerry R. Mendell, Zarife Sahenk
Muscle Nerve.
Published in final edited form as: Muscle Nerve. 2013 May; 47(5): 731–739. Published online 2013 Mar 29. doi: 10.1002/mus.23669
PMCID:
PMC3634894
16.
Sabrina Sacconi, Pilar Camaño, Jessica C. de Greef, Richard J. L. F. Lemmers, Leonardo Salviati, Pascal Boileau, Adolfo Lopez de Munain Arregui, Silvère M. van der Maarel, Claude Desnuelle
J Med Genet.
Published in final edited form as: J Med Genet. 2012 Jan; 49(1): 41–46. Published online 2011 Oct 7. doi: 10.1136/jmedgenet-2011-100101
PMCID:
PMC3560331
17.
Andreas Leidenroth, Hanne Sørmo Sorte, Gregor Gilfillan, Melanie Ehrlich, Robert Lyle, Jane E Hewitt
Eur J Hum Genet. 2012 Sep; 20(9): 999–1003. Published online 2012 Feb 29. doi: 10.1038/ejhg.2012.42
PMCID:
PMC3421126
18.
Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing, Thomas O Krag
BMC Musculoskelet Disord. 2012; 13: 43. Published online 2012 Mar 23. doi: 10.1186/1471-2474-13-43
PMCID:
PMC3338386
19.
Ebe Pastorello, Michelangelo Cao, Carlo P. Trevisan
Clin Neurol Neurosurg. 2012 Apr; 114(3): 230–234. doi: 10.1016/j.clineuro.2011.10.022
PMCID:
PMC3314982
20.
Natalia Ermolova, Elena Kudryashova, Marino DiFranco, Julio Vergara, Irina Kramerova, Melissa J. Spencer
Hum Mol Genet. 2011 Sep 1; 20(17): 3331–3345. Published online 2011 May 30. doi: 10.1093/hmg/ddr239
PMCID:
PMC3153300

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